相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis
Ronald Wapner
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2012)
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
Andrew B. Sparks et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2012)
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
Ghalia Ashoor et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2012)
Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype
G. D'Amours et al.
CLINICAL GENETICS (2012)
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2012)
Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing
Alice K. Hawkins et al.
JOURNAL OF GENETIC COUNSELING (2012)
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
Diana W. Bianchi et al.
OBSTETRICS AND GYNECOLOGY (2012)
The Amniotic Fluid Transcriptome A Source of Novel Information About Human Fetal Development
Lisa Hui et al.
OBSTETRICS AND GYNECOLOGY (2012)
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
Andrew B. Sparks et al.
PRENATAL DIAGNOSIS (2012)
Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011
Peter Benn et al.
PRENATAL DIAGNOSIS (2012)
Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis
Frederik Banch Clausen et al.
TRANSFUSION (2012)
A transcriptional profile of the decidua in preeclampsia
Mari Loset et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2011)
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
Mathias Ehrich et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2011)
Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience
P. G. Scheffer et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2011)
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
Nancy B. Y. Tsui et al.
BLOOD (2011)
Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles
Gary J. W. Liao et al.
CLINICAL CHEMISTRY (2011)
Noninvasive Prenatal Diagnosis of a Case of Down Syndrome due to Robertsonian Translocation by Massively Parallel Sequencing of Maternal Plasma DNA
Fiona M. F. Lun et al.
CLINICAL CHEMISTRY (2011)
Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood
Amy J. Sehnert et al.
CLINICAL CHEMISTRY (2011)
Non-invasive prenatal determination of fetal sex: translating research into clinical practice
M. Hill et al.
CLINICAL GENETICS (2011)
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2011)
Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18
Keiko Koide et al.
HUMAN GENETICS (2011)
Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA A Systematic Review and Meta-analysis
Stephanie A. Devaney et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Proof of Concept Study to Assess Fetal Gene Expression in Amniotic Fluid by NanoArray PCR
Lauren J. Massingham et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2011)
Placental-specific microRNA in maternal circulation - identification of appropriate pregnancy-associated microRNAs with diagnostic potential
Katerina Kotlabova et al.
JOURNAL OF REPRODUCTIVE IMMUNOLOGY (2011)
Get ready for the flood of fetal gene screening
Henry T. Greely
NATURE (2011)
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
Elisavet A. Papageorgiou et al.
NATURE MEDICINE (2011)
Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome
David Peters et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
Eric Z. Chen et al.
PLOS ONE (2011)
Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England
Melissa Hill et al.
PRENATAL DIAGNOSIS (2011)
Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths
R. Alan Harris et al.
PRENATAL DIAGNOSIS (2011)
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Rossa W. K. Chiu et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
Should Non-Invasiveness Change Informed Consent Procedures for Prenatal Diagnosis?
Zuzana Deans et al.
HEALTH CARE ANALYSIS (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
The Transcriptome of the Fetal Inflammatory Response Syndrome
Sally A. Madsen-Bouterse et al.
AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY (2010)
Application of a target array Comparative Genomic Hybridization to prenatal diagnosis
Ji Hyeon Park et al.
BMC MEDICAL GENETICS (2010)
Synergy of Total PLAC4 RNA Concentration and Measurement of the RNA Single-Nucleotide Polymorphism Allelic Ratio for the Noninvasive Prenatal Detection of Trisomy 21
Nancy B. Y. Tsui et al.
CLINICAL CHEMISTRY (2010)
Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma
Kiyonori Miura et al.
CLINICAL CHEMISTRY (2010)
Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing
H. Christina Fan et al.
CLINICAL CHEMISTRY (2010)
Noninvasive Fetal Blood Grouping: Present and Future
Geoff Daniels et al.
CLINICS IN LABORATORY MEDICINE (2010)
Ethical challenges in providing noninvasive prenatal diagnosis
Peter A. Benn et al.
CURRENT OPINION IN OBSTETRICS & GYNECOLOGY (2010)
Insights into fetal and neonatal development through analysis of cell-free RNA in body fluids
Diana W. Bianchi et al.
EARLY HUMAN DEVELOPMENT (2010)
Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome
Marleen R. Susman et al.
GENETICS IN MEDICINE (2010)
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
B. H. W. Faas et al.
JOURNAL OF MEDICAL GENETICS (2010)
The levels of hypoxia-regulated microRNAs in plasma of pregnant women with fetal growth restriction
J. -F. Mouillet et al.
PLACENTA (2010)
Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms
Sujana Ghanta et al.
PLOS ONE (2010)
The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma
Kiyonori Miura et al.
PRENATAL DIAGNOSIS (2010)
Prenatal Diagnosis: past, present, and future
Malcolm A. Ferguson-Smith et al.
PRENATAL DIAGNOSIS (2010)
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
Idit Maya et al.
PRENATAL DIAGNOSIS (2010)
Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications
A. Hall et al.
PUBLIC HEALTH GENOMICS (2010)
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
Y. M. Dennis Lo et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
All Our Babies Cohort Study: recruitment of a cohort to predict women at risk of preterm birth through the examination of gene expression profiles and the environment
Sara K. Gracie et al.
BMC PREGNANCY AND CHILDBIRTH (2010)
Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice
Arthur L. Beaudet
GENOME MEDICINE (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Array-Based Comparative Genomic Hybridization (aCGH) in the Genetic Evaluation of Stillbirth
Gordana Raca et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Human Villous Trophoblasts Express and Secrete Placenta-Specific MicroRNAs into Maternal Circulation via Exosomes
Shan-Shun Luo et al.
BIOLOGY OF REPRODUCTION (2009)
Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art
Y. M. D. Lo
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2009)
The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention Multidisciplinary Workshop
Muin J. Khoury et al.
GENETICS IN MEDICINE (2009)
Practical and Ethical Considerations of Noninvasive Prenatal Diagnosis
Peter A. Benn et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings
M. Tyreman et al.
JOURNAL OF MEDICAL GENETICS (2009)
ACOG Committee Opinion No. 446: Array Comparative Genomic Hybridization in Prenatal Diagnosis
OBSTETRICS AND GYNECOLOGY (2009)
Placenta-Derived Fetal Specific mRNA Is More Readily Detectable in Maternal Plasma than in Whole Blood
Macy M. S. Heung et al.
PLOS ONE (2009)
High-resolution array genomic hybridization in prenatal diagnosis
J. M. Friedman
PRENATAL DIAGNOSIS (2009)
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
Justine Coppinger et al.
PRENATAL DIAGNOSIS (2009)
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
Linda Kleeman et al.
PRENATAL DIAGNOSIS (2009)
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
Ignatia B. Van den Veyver et al.
PRENATAL DIAGNOSIS (2009)
Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
Donna K. Slonim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Placental Gene Expression Profile in Intrauterine Growth Restriction Due to Placental Insufficiency
Vasilis Sitras et al.
REPRODUCTIVE SCIENCES (2009)
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
Fiona M. F. Lun et al.
CLINICAL CHEMISTRY (2008)
Detection and characterization of placental MicroRNAs in maternal plasma
Stephen S. C. Chim et al.
CLINICAL CHEMISTRY (2008)
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
Lisa G. Shaffer et al.
PRENATAL DIAGNOSIS (2008)
Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy
Kiyonori Miura et al.
PRENATAL DIAGNOSIS (2008)
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
Fiona M. F. Lun et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Rossa W. K. Chiu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
H. Christina Fan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Placenta-derived, cellular messenger RNA expression in the maternal blood of preeclamptic women
Shiho Okazaki et al.
OBSTETRICS AND GYNECOLOGY (2007)
Gene expression analysis in pregnant women and their infants identifies unique fetal biomarkers that circulate in maternal blood
Jill L. Maron et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Detection of aneuploidy with digital polymerase chain reaction
H. Christina Fan et al.
ANALYTICAL CHEMISTRY (2007)
Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype
U. Rozovski et al.
HUMAN REPRODUCTION (2007)
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
Y. M. Dennis Lo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Cell-free mRNA concentrations of CRH, PLAC1, and selectin-P are increased in the plasma of pregnant women with preeclampsia
Yuditiya Purwosunu et al.
PRENATAL DIAGNOSIS (2007)
Oxidative stress:: A bridge between Down's syndrome and Alzheimer's disease
Marianna Zana et al.
NEUROBIOLOGY OF AGING (2007)
Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast
M. Alberry et al.
PRENATAL DIAGNOSIS (2007)
Distinct subsets of microRNAs are expressed differentially in the human placentas of patients with preeclampsia
Beth L. Pineles et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2007)
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
Y. M. Dennis Lo et al.
NATURE MEDICINE (2007)
Educating health-care professionals about genetics and genomics
Alan E. Guttmacher et al.
NATURE REVIEWS GENETICS (2007)
Hypermethylated RASSF1A in maternal plasma:: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis
K. C. Allen Chan et al.
CLINICAL CHEMISTRY (2006)
The connectivity map: Using gene-expression signatures to connect small molecules, genes, and disease
Justin Lamb et al.
SCIENCE (2006)
Trophoblastic oxidative stress and the release of cell-free feto-placental DNA
May Lee Tjoa et al.
AMERICAN JOURNAL OF PATHOLOGY (2006)
Sharpening the Tools: A summary of a National Institutes of Health workshop on new technologies for detection of fetal cells in maternal blood for early prenatal diagnosis
DW Bianchi et al.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2006)
Time profile of appearance and disappearance of circulating placenta-derived mRNA in maternal plasma
RWK Chiu et al.
CLINICAL CHEMISTRY (2006)
Detection of the placental epigenetic signature of the maspin gene in maternal plasma
SSC Chim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Global gene expression analysis of the living human fetus using cell-free messenger RNA in amniotic fluid
PB Larrabee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Gene expression analysis of cultured amniotic fluid cell with down syndrome by DNA microarray
IH Chung et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2005)
Cell-free fetal DNA in maternal blood: kinetics, source and structure
FZ Bischoff et al.
HUMAN REPRODUCTION UPDATE (2005)
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism
H Masuzaki et al.
JOURNAL OF MEDICAL GENETICS (2004)
Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling
NBY Tsui et al.
JOURNAL OF MEDICAL GENETICS (2004)
Size distributions of maternal and fetal DNA in maternal plasma
KCA Chan et al.
CLINICAL CHEMISTRY (2004)
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
AJ Schaeffer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Evaluation of bidirectional transfer of plasma DNA through placenta
A Sekizawa et al.
HUMAN GENETICS (2003)
The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia
EKO Ng et al.
CLINICAL CHEMISTRY (2003)
mRNA of placental origin is readily detectable in maternal plasma
EKO Ng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Transcriptome analysis of human autosomal trisomy
DR FitzPatrick et al.
HUMAN MOLECULAR GENETICS (2002)
Prediction of fetal D status from maternal plasma:: introduction of a new noninvasive fetal RHD genotyping service
KM Finning et al.
TRANSFUSION (2002)
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
DW Bianchi et al.
PRENATAL DIAGNOSIS (2002)
分享论文
